Canonical Allele Identifier: CA977236222

Gene: NOD2

Linked Data

• gnomAD v3: 16-50699932-C-CGA
• gnomAD v4: 16-50699932-C-CGA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50699933_50699934dup , CM000678.2:g.50699933_50699934dup	GRCh38
NC_000016.9:g.50733844_50733845dup , CM000678.1:g.50733844_50733845dup	GRCh37
NC_000016.8:g.49291345_49291346dup	NCBI36
NG_007508.1:g.7795_7796dup , LRG_177:g.7795_7796dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.438_439dup	ENSP00000493088.1:p.Ile147ArgfsTer18
ENST00000646677.2:c.438_439dup	ENSP00000496533.1:p.Ile147ArgfsTer18
ENST00000641284.1:c.438_439dup	ENSP00000493088.1:p.Ile147ArgfsTer18
ENST00000646677.1:c.438_439dup	ENSP00000496533.1:p.Ile147ArgfsTer18
ENST00000647318.2:c.438_439dup MANE Select	ENSP00000495993.1:p.Ile147ArgfsTer18
ENST00000300589.6:c.519_520dup	ENSP00000300589.2:p.Ile174ArgfsTer18
ENST00000526417.6:n.506_507dup
ENST00000527070.5:c.*1134_*1135dup	ENSP00000435149.1:n.*1134_*1135dup
ENST00000532206.1:n.623_624dup
NM_001293557.1:c.438_439dup	NP_001280486.1:p.Ile147ArgfsTer18
NM_022162.2:c.519_520dup	NP_071445.1:p.Ile174ArgfsTer18
XM_005256084.2:c.438_439dup	XP_005256141.1:p.Ile147ArgfsTer18
XM_006721242.2:c.438_439dup	XP_006721305.1:p.Ile147ArgfsTer18
XM_006721243.2:c.438_439dup	XP_006721306.1:p.Ile147ArgfsTer18
XM_011523257.1:c.-59_-58dup	XP_011521559.1:n.-59_-58dup
XM_011523258.1:c.-38+6271_-38+6272dup	XP_011521560.1:n.-38+6271_-38+6272dup
XM_011523259.1:c.-42_-41dup	XP_011521561.1:n.-42_-41dup
XM_011523260.1:c.438_439dup	XP_011521562.1:p.Ile147ArgfsTer18
XM_011523261.1:c.438_439dup	XP_011521563.1:p.Ile147ArgfsTer18
XR_429725.2:n.528_529dup
XR_429726.2:n.528_529dup
XR_933387.1:n.528_529dup
XM_005256084.4:c.438_439dup	XP_005256141.1:p.Ile147ArgfsTer18
XM_006721242.4:c.438_439dup	XP_006721305.1:p.Ile147ArgfsTer18
XM_006721243.4:c.438_439dup	XP_006721306.1:p.Ile147ArgfsTer18
XM_011523259.2:c.-42_-41dup	XP_011521561.1:n.-42_-41dup
XM_011523260.3:c.438_439dup	XP_011521562.1:p.Ile147ArgfsTer18
XM_011523261.2:c.438_439dup	XP_011521563.1:p.Ile147ArgfsTer18
XM_017023536.1:c.-127+6271_-127+6272dup	XP_016879025.1:n.-127+6271_-127+6272dup
XM_017023537.1:c.-21+6271_-21+6272dup	XP_016879026.1:n.-21+6271_-21+6272dup
XR_429725.3:n.481_482dup
XR_429726.3:n.481_482dup
XR_933387.2:n.481_482dup
NM_001293557.2:c.438_439dup	NP_001280486.1:p.Ile147ArgfsTer18
NM_001370466.1:c.438_439dup MANE Select	NP_001357395.1:p.Ile147ArgfsTer18
NM_022162.3:c.519_520dup	NP_071445.1:p.Ile174ArgfsTer18
NR_163434.1:n.503_504dup